rs1085307066
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 5 |
Position | 128274648 |
Gene | FBN2 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307066 |
dbSNP (classic) | rs1085307066 |
ClinGen | rs1085307066 |
ebi | rs1085307066 |
HLI | rs1085307066 |
Exac | rs1085307066 |
Gnomad | rs1085307066 |
Varsome | rs1085307066 |
LitVar | rs1085307066 |
Map | rs1085307066 |
PheGenI | rs1085307066 |
Biobank | rs1085307066 |
1000 genomes | rs1085307066 |
hgdp | rs1085307066 |
ensembl | rs1085307066 |
geneview | rs1085307066 |
scholar | rs1085307066 |
rs1085307066 | |
pharmgkb | rs1085307066 |
gwascentral | rs1085307066 |
openSNP | rs1085307066 |
23andMe | rs1085307066 |
SNPshot | rs1085307066 |
SNPdbe | rs1085307066 |
MSV3d | rs1085307066 |
GWAS Ctlg | rs1085307066 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307066(T;T) |
Alt | rs1085307066(T;T) |
Reference | Rs1085307066(C;C) |
Significance | Probable-Pathogenic |
Disease | Congenital contractural arachnodactyly |
Variation | info |
Gene | FBN2 |
CLNDBN | Congenital contractural arachnodactyly |
Reversed | 1 |
HGVS | NC_000005.9:g.127610340G>A |
CLNSRC | |
CLNACC | RCV000490469.1, |